Results 141 to 150 of about 2,252,434 (232)

Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome

, 1999
William Reardon, Rebecca Coffey, Tanzina Chowdhury, Ashley Grossman, Hikmat Jan, K. E. Britton, P. Kendall‐Taylor, Richard C. Trembath   +7 more
openalex   +2 more sources

Congenital hypothyroidism as the initial presentation of pendred syndrome associated with mutated IVS7-2A>G in SLC26A4 gene in a Taiwanese neonate.

Pediatrics and Neonatology, 2022
Sun-Mei Chung, Yu-Wen Pan, Yi-Shan Tsai, Meng-Che Tsai   +3 more
semanticscholar   +1 more source

Mutations of Dual Oxidase 2 (DUOX2) Gene among patients with Permanent and Transient Congenital Hypothyroidism [PDF]

, 2012
Objective: The prevalence of congenital hypothyroidism (CH) is high in Isfahan, Iran. In addition, it has different etiologies compared with other countries. The rate of parental consanguinity is also high in the city. Moreover, DUOX2 gene is effective
Feizi, Awat., Haghjooy Javanmard, Shaghayegh., Hashemipour, Mahin., Kelishadi, Roya., Rostampour, Noushin., Salehi, Mansour., Tajeddini, Mohammad Hasan.   +6 more
core  

Pendred Syndrome and Role of Pendrin on Thyroid Physiology

Napata Scientific Journal, 2022

semanticscholar   +1 more source

Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene [PDF]

, 2001
Eisuke Sato, Tsutomu Nakashima, Yuki Miura, Atsushi Furuhashi, Atsuo Nakayama, N Mori, Hideki Murakami, Shinji Naganawa, Masanori Tadokoro   +8 more
openalex   +1 more source

Magnetic resonance imaging features of large endolymphatic sac compartments: audiological and clinical correlates [PDF]

, 2017
Objectives: (1) To study the prevalence and characteristics of large endolymphatic sac internal compartments on thin-section T2- and T2*-weighted magnetic resonance imaging, and to relate these to other large endolymphatic sac magnetic resonance imaging ...
Connor, S E J., Fitzgerald-O'Connor, A., Jiang, D., Lee, A., O'Gorman, R., Siddiqui, A., Tysome, J R.   +6 more
core  

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais

BMC Medical Genomics
Background People with autosomal recessive disorders often were born without awareness of the carrier status of their parents. The American College of Medical Genetics and Genomics (ACMG) recommends screening 113 genes known to cause autosomal recessive ...
Wanna Chetruengchai, Prasit Phowthongkum, Vorasuk Shotelersuk   +2 more
doaj   +1 more source

Functional and molecular characterization of pendrin, the anion exchanger involved in Pendred syndrome, non-syndromic deafness and respiratory distresses.

, 2015
Emanuele Bernardinelli
openalex   +2 more sources

Pendred syndrome. [PDF]

Journal of Medical Genetics, 1996
W, Reardon, R C, Trembath
openaire   +2 more sources

Differential Diagnosis between Pendred and Pseudo-Pendred Syndromes: Clinical, Radiologic, and Molecular Studies [PDF]

, 2002
Laura Fugazzola, Nadia Cerutti, Deborah Mannavola, Antonino Crinò, Alessandra Cassio, P Gasparoni, Guia Vannucchi, Paolo Beck‐Peccoz   +7 more
openalex   +1 more source